RTS is a multisystem disorder. EP300is associated with RTS type 2 (RTS2).
The typical clinical presentation of RTS2 includes:
• Developmental delay and intellectual disability (ID):
Highly variable with intelligence quotient (IQ) ranging from 25 to 79.
RTS2 patients have a higher average cognitive level.
For RTS2 patients on average the cognitive level tends more towards the higher level.
• Typical facial dysmorphism:
RTS2 patients can have mild facial characteristics, like a low hanging nasal septum.
• Distal limb and skeletal abnormalities:
Abnormalities of the extremities are usually one of the most characteristic phenotypic elements to evoke the diagnosis
• Growth retardation
• Hypertrichosis
• Maternal preeclampsia
Other less frequently reported clinical features are:
• Cardiac anomalies
• Low blood sugar
• Non specific EEG abnormalities
• Brain malformations
• Dental abnormalities
• Ocular abnormalities
• Feeding problems
• Urinary tract anomalies
• Keloid and hypertrophic scars
EP300